Product Details

SNP ID

rs200126811

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:169514452 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCCTTTGGTATTAGTATTTCCT[G/T]CAAAAATCTGAAAGCCAAATAAGAG

Phenotype

MIM: 612309

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

F5 PubMed Links

Gene Details

Gene

F5

Gene Name

coagulation factor V

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000130.4	6681	Missense Mutation	GAA,GCA	E2179A	NP_000121.2
XM_017000660.1	6681	Missense Mutation	GAA,GCA	E2042A	XP_016856149.1

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